Discussions By Condition: I cannot get a diagnosis.

absences/fits, NOT epilepsy. please help!

my friend has been suffering with an unknown disorder for almost a year now.He's 24, has never had anything like this until last year and is generally in very good health.

His symptoms are: prolonged 'absences' during which it is impossible to get any response though he says afterwards that he can hear it all but not respond. He also (rarely) has siezures similar to epilepsy. He always knows when either of these fits are about to occur but is powerless to stop them. Afterwards he is disorientated, his speech is slurred and he is very weak, this last for anyting up to 30 minutes afterwards. He also has started experiencing involuntary twitches of his hands which can be quite violent and cause him to drop things.

He has had loads of tests done which have all come back clear, his doctors have told him it is NOT epilepsy but cannot tell him what it is! They have suggested that it is a psychosomatic thing but none of us believe it is. As far as he knows, he has never had a serous head injury which could be causing it and it just started up one day. There is no link between what is cuasing it and it varies in severity.

Becuase the doctors are not aware what is causing it, he cannot work or drive and it is getting him down alot. Apart from the above there is nothing wrong with him!

Any help or suggestions would be greatly appreciated, I want to help but I don't know how!:confused:

7 Replies:

Hi TIA: Can you tell me WHY the doctors said it was NOT epilepsy? What ruled it out? Has he tried taking drugs used to control epilepsy like Dilantin or other anti-seizure drugs? If there has been NO DIAGNOSIS, have him request an anti seizure medication like Dilantin and see if that alleviates the problem. If an anti-epileptic drug works, who cares what the diagnosis as long as he is free to drive and function again?

Hi there, I am experiencing almost the same exact problems that your friend is. My doctors have done a bunch of tests, but everything is coming back as "normal." I had a head injury when I was 14 years old, but the neurologist is doubting that has anything to do with my problem. My EEG results came back with the mention of "temprol lobe slowing", but my neurologist once again said that "anyone without seizures can have an EEG come back like that." It wasn't a very comforting feeling to hear that. He put me on Dilantin & Lamotrigine which are both anti-seizure medications. The side effects aren't the greatest, but they have helped stop the major seizures I have been expeiriencing. I've been able to maintain my job, but the medication side effects & this problem has caused me to almost lose it. My seizures would come on without any warning, and I would be very out of it for about 30 - 60 minutes afterwards. I've been hospitalized a few times for this problem, and nothing seems to happen while I'm there. I've had CT, MRI, and 2 EEG's. Suggest to your friend about talking to his Dr. about a "sleep debrived EEG". I ended up having a mini-seizure on mine and am currently waiting for the results to come back. I hope they can find something for him as I know what he is going through and it is VERY tough. My family dr. thinks I may be having seizures due to stress, but I'm yet to take that as my true diagnosis. I've now started doing more searches myself on what this could possibily be. I take my information to the dr. and get the required tests to help find this problem out. Good Luck.

Well, the reason that we don't epxeriment with anticonvulsants is well qualified. The person's symptoms being described in the posting are associated with psychogenic seizures. Due to the circumstances, it is sometimes difficult for the medical professional to simply state the matter forthright to the patient, who is demonstrating pseudo-seizure activity which has a psychiatric origin. The most reasonable stance under such conditions is to rule out the presence of actual refractory seizure disorder and its underlying cause. By the description, such tests have already been performed and epileptiform disorders ruled out. True refractory seizures do not suggest to the affected individual that "something is coming on" so to speak. True absence seizures are so named because the individual subequently is bewildered by the loss of time induced by the event, during which time there is no recall, ie being able to hear but not respond or have any other knowledge of the event itself. An involuntary twitch of the hand is also synonymous with disorders that are psychiatric in origin, more particularly the right hand but in some instances, both the nature of psychogenic seizure activity has underpinnings that are not always observable by those familiar with the affected person and to the untrained eye, the seizures and behavior afterward can seem extremely real. Actual epileptiform seizure activity, however, has extremely characteristic patterns which are not well known to the untrained observer. In other words, in the case of psychogenic seizures, some things manifest that should not and certain factors that should absolutely exist, do not. As a basic example, using one's knuckle to aggressively and sharply rub the sternum or pressing a reflex hammer sharply across the ulnar bone will produce an instant pain response in the case of psychogenic seizure because in actuality, there is no absence from conscious awareness to stimuli. If the eyes are open during the event, using a striking motion of the hand toward the eye will produce an automatic blink reflex. These are but several methods used to discern the actual state of awareness of the patient. Patients with true seizure acitivity do not respond to painful stimuli and cannot alter their state of awareness in order to withdraw from pain or blink to confrontation. It is also important to note that this type of seizure is not equated with faking or malingering, but represents a true psychogenic phenomenon for the patient. I would also ask at this point whether the young man's eyes are open or closed during the seizure events and whether he can discriminate between the events as either mild or especially bad? Is there anything that he takes following the seizures that speeds his recovery? It is not uncommon for family and friends of the affected individual to become frustrated with the medical community under such circumstances and even lash out if discussion is made to test the waters regarding the nature of the seizures to be psychogenic in origin. It should be noted that seizure activity of the type described does not escape detection on EEG evaluation. Clinical measures unbeknown to the patient are also deployed which in cases of true refractory seizure disorder will prompt actvity to occur and be recorded. In the case of psychogenic seizures, these benchmarks produce no results because the seizure is non-organic in nature. Rest assured that if the patient has been evaluated by an epileptologist or neurologist, they are well aware of the nature of the disorder. Again, it becomes difficult wherein no evidence of epileptiform seizures can be recorded and yet both the family and the patient feel assured that it exists. Psychogenic seizures, or psuedoseizures, are a very real phenomenon but the suggestion that their origin is psychiatric is almost always rebuffed. Seizures that are non-organic in nature, however, can also exist subsequent to the introduction or use of certain drugs and even alcohol in some instances. If there is no known history of recreational drug use, then it's of little consequence to consider it as a differential diagnosis and screening is often performed to determine whether this may be the case. I realize how frustrating this is for both the patient and family, but my suggestion here is that regardless of any diagnostic testing that is performed, consider evaluation by a board-certified psychiatrist who is experienced in dealing with psychogenic manifestations and somatoform disorders. Best regards, J Cottle, MD

hi all,thanks very much for your fast replies (especially helpful for obvious reasons was J cottle's reply. I didn't mean to make it sound as though I am lashing out at the doctors who have treated my friend, beleive me, they have been helpful and as I'm sure people understand it is frustrating and worrying to not know what it is.In respinse to Jessix's questions, I'm not certain what his exact results were basically he has had a brain scan, an EEG and various others which I can only say have come back 'normal' (though I am close to him, he is reluctant to discuss it more than he has to with anybody).His doctors have refrained from prescribing him any medication for epilepsy or any other anti-seizure type drugs in case they exacerbate the problem which I completely understand, obviously you do not give heart disease medication to a patient who only possibly has heart diseaese and there is not going to be a miracle pill but it would be nice!In response to (Dr) Cottle's question, his eyes are open but vacant when he has an episode. Yes it is possible to separate the mild ones from the particularly bad ones and he is aware of having a very bad one compared with a mild one. And no at present he does not take anything to speed recovery after a siezure. Also, I have tried the hand motion and it does not get any response, I haven't tried the rubbing of the sternum but I will try it when I'm next present. Also, no he has never used any recreational drugs, he does drink occasionally but not in excess and his seizures rarely coincide with his drinking.I do appreciate all of your comments, and I am aware that it could be a psychosomatic problem but it is understandably very difficult to approach it that way with him. It has also been suggested to him by his doctors that it may be induced by stress but he hasn't been under any more stress than usual when he has had these episodes.Thank you all very much for your comments, he is awaiting some sleep deprived EEG results at the moment and I will post them if and when he tells me them.Also, NorthernGirl09, I am sorry to hear that you have also been experiencing these problems, and I hope you find a way through soon. Regards to all,Tia

Dont listen to doctors who are so quick to dismiss an organic cause and emphatically state that it is of psychogenic nature.It may be but it also may not be.Has your friend have liver function test?If yes what were the results?Does he have a sensation of hardness/tenseness in his stomach and a feeling of pulsating in the artery inside the stomach?Does he have any psych/neuro symptoms like personality changes,confusion,rage,disorientation,memory problems etcIf he has these symptoms it would be a good idea for him to get an ultrasound of the abdomen including the liver and the spleen to check if he has ascites.Ascites are a buildup of fluid in the peritoneal and/or abdominal cavity which can be caused by portal hypertension.You don't necessarily need to have a large,obvious stomach to have ascites.One of the consequenses of Portal Hypertension can be Hepatic Encephalopathy.Hepatic Encephalopathy occurs when there are impaired liver function or the toxins that would normally be removed by the liver build up in the bloodstream and cause damage to the brain and nervous system.one of the toxins hypothesized to do this damage in ammonia.A person doesn't necessarily have to have liver damage to have Hepatic Encephalopathy as sometimes it can be caused by dehydration,low oxygen levels,kidney problems or the cause can be idiopathic.The symptoms include hypersomnolence,shallow breathing,personality changes,episodes that can manifest similarly to Temporal Lobe Epilepsy,confusion,cognitive impairment,rage,crying,muscle tremors,sleep pattern reversal,sometimes but NOT NECESSARILY asterix.*Another symptom can be involuntary hand twitches-yes, the same involuntary hand twitches that Dr Cottle was so quick to say are a sign of a disorder being of a psych origin, so in my opinion be careful before you accept such "diagnosis" from doctors-ALWAYS listen to your own gut feeling what you know about your body regardless of whether a doctor tells you otherwise.I also found it interesting and a contradiction that Dr Cottle said "the reason why we don't experiment with anticonvulsants is well qualified" when in actuality, if your friend sees a psychiatrist, that's exactly what most likely will be done-experimenting with medication,quite likely antipsychotics,which some would argue are even more dangerous then anticonvulsants.Also keeping in mind that the diagnosis and medication will be given on a purely subjective diagnostic basis,without any testing to provide scientific evidence that your friend/that patient even has that disorder.Did your friend have a P.E.T scan?If he did,what were the results?Did his E.E.G definately say normal?It's agood idea for him to have all his medical records and to see them personally because sometimes doctors can say something was a normal result when it fact it wasn't-it was instead slightly abnormal or non-specific but they don't know the meaning so they will state it was normal.So it would be helpful if you know was his E.E.G definately normal or were there any slight abnormalities at all,even slow waves?Also has he had cardiac function tests?How often do these episodes happen?Its a long shot but does he regularly use artificial sweeteners like equal or nutrasweet?Also having a 24 hour provoked urine test might be a good idea even though its a long shot.Does he have any other symptoms?Were there any abnormalities at all on any of his tests?Now to the psychogenic possibility-did he have any traumatic life event/s happen just before this all started

The username mkor4 is obviously not a licensed medical doctor and most people responding in this dramatic manner fancy themselves to be possess medical expertise by merely searching out the internet and trying to match symptoms that they erroneously believe to be similar in nature, or alternatively possess quasi-medical related degrees or training but often overstep their skills or experience with a particular resentment for medical doctors. "Contradiction" in this instance would be from an unlicensed and untrained individual whose position is unjustified to any extent. Signs of hepatic encephalopathy are quite obvious. Asterixis, or flapping tremor is all too familiar to practitioners and not associated with tremors known to be demonstrated by persons with psychogenic seizures. Ammonia levels are elevated, together with liver enzymes, among lab data that is always used to screen for such disorders. AST and ALT relationships also typically demonstrate a chronic state of alcohol abuse in most instances and or evidence of hepatic dysfunction due to hepatitis. The clinical signs, however, are quite obvious. Imaging studies such as MRI also reveal signs of encephalopathy.The EEG in patients with hepatic encephalopathy always indicates abnormal slowing. Seizures are NOT is sign of hepatic encephalopathy and the cognitive signs are associated with delerium and stupor, not absence behaviors that are eventful and cyclic. There's nothing of the information originally provided that would suggest the presence of hepatic encephalopathy. Best regards, J Cottle, MD